Simon Edvardson
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Explore the profile of Simon Edvardson including associated specialties, affiliations and a list of published articles.
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Articles
73
Citations
1938
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Recent Articles
1.
Confino S, Wexler Y, Medvetzky A, Elazary Y, Ben-Moshe Z, Reiter J, et al.
Dis Model Mech
. 2024 Aug;
17(8).
PMID: 39189071
Sleep disturbances are common among children with neurodevelopmental disorders. Here, we report a syndrome characterized by prenatal microcephaly, intellectual disability and severe disruption of sleep-wake cycles in a consanguineous family....
2.
Abela L, Gianfrancesco L, Tagliatti E, Rossignoli G, Barwick K, Zourray C, et al.
Brain
. 2024 Jan;
147(6):2023-2037.
PMID: 38242634
DNAJC6 encodes auxilin, a co-chaperone protein involved in clathrin-mediated endocytosis (CME) at the presynaptic terminal. Biallelic mutations in DNAJC6 cause a complex, early-onset neurodegenerative disorder characterized by rapidly progressive parkinsonism-dystonia...
3.
Rips J, Halstuk O, Fuchs A, Lang Z, Sido T, Gershon-Naamat S, et al.
Genet Med
. 2024 Jan;
26(4):101068.
PMID: 38193396
Purpose: Widespread application of next-generation sequencing, combined with data exchange platforms, has provided molecular diagnoses for countless families. To maximize diagnostic yield, we implemented an unbiased semi-automated genematching algorithm based...
4.
Lin X, Wang W, Yang M, Damseh N, de Sousa M, Jacob F, et al.
Genome Biol
. 2023 Sep;
24(1):216.
PMID: 37773136
Background: Oxidation Resistance 1 (OXR1) gene is a highly conserved gene of the TLDc domain-containing family. OXR1 is involved in fundamental biological and cellular processes, including DNA damage response, antioxidant...
5.
Strauss K, Carson V, Bolettieri E, Everett M, Bollinger A, Bowser L, et al.
Ann Clin Transl Neurol
. 2023 Aug;
10(11):1972-1984.
PMID: 37632133
Objective: We created WiTNNess as a hybrid prospective/cross-sectional observational study to simulate a clinical trial for infantile-onset TNNT1 myopathy. Our aims were to identify populations for future trial enrollment, rehearse...
6.
ONeill A, Burrell A, Zech M, Elpeleg O, Harel T, Edvardson S, et al.
J Biol Chem
. 2023 Jul;
299(8):105012.
PMID: 37414152
Inosine 5' monophosphate dehydrogenase (IMPDH) is a critical regulatory enzyme in purine nucleotide biosynthesis that is inhibited by the downstream product GTP. Multiple point mutations in the human isoform IMPDH2...
7.
ONeill A, Burrell A, Zech M, Elpeleg O, Harel T, Edvardson S, et al.
bioRxiv
. 2023 Mar;
PMID: 36993700
Inosine 5' monophosphate dehydrogenase (IMPDH) is a critical regulatory enzyme in purine nucleotide biosynthesis that is inhibited by the downstream product GTP. Multiple point mutations in the human isoform IMPDH2...
8.
Srivastava S, Shaked H, Gable K, Gupta S, Pan X, Somashekarappa N, et al.
Brain
. 2023 Jan;
146(4):1420-1435.
PMID: 36718090
Sphingolipids are a diverse family of lipids with critical structural and signalling functions in the mammalian nervous system, where they are abundant in myelin membranes. Serine palmitoyltransferase, the enzyme that...
9.
Katz B, Zaguri R, Edvardson S, Maayan C, Elpeleg O, Lev S, et al.
J Clin Invest
. 2022 Dec;
133(3).
PMID: 36454632
BACKGROUNDChronic pain is a debilitating illness with currently limited therapy, in part due to difficulties in translating treatments derived from animal models to patients. The transient receptor potential vanilloid 1...
10.
Ezer S, Daana M, Park J, Yanovsky-Dagan S, Nordstrom U, Basal A, et al.
Brain
. 2021 Nov;
145(3):872-878.
PMID: 34788402
Pathogenic variants in SOD1, encoding superoxide dismutase 1, are responsible for about 20% of all familial amyotrophic lateral sclerosis cases, through a gain-of-function mechanism. Recently, two reports showed that a...